R31G (p.Arg31Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
R31G (p.Arg31Gly) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- gnomAD 7-94398391-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available